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1

Optical Genome Mapping for Applications in Repeat Expansion..:

van der Sanden, Bart ; Neveling, Kornelia ; Pang, Andy Wing Chun...
Current Protocols. 4 (2024) 7 - p. , 2024

Link: https://doi.org/10.1002/..

2

A combination of long and short read genomics reveals frequ..:

Schuy, Jakob ; Sæther, Kristine Bilgrav ; Lisfeld, Jasmin...
Genetics in Medicine Open. , 2024

Link: https://doi.org/10.1016/..

3

Lessons learned from rapid exome sequencing for 575 critica..:

Marouane, Abderrahim ; Neveling, Kornelia ; Deden, A. Chantal...
Frontiers in Genetics. 14 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

4

Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN..:

Haer-Wigman, Lonneke ; den Ouden, Amber ; Derks, Ronny...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

5

A framework for the clinical implementation of optical geno..:

Levy, Brynn ; Kanagal‐Shamanna, Rashmi ; Sahajpal, Nikhil S....
American Journal of Hematology. 99 (2024) 4 - p. 642-661 , 2024

Link: https://doi.org/10.1002/..

6

A complex structural variant near SOX3 causes X-linked spli..:

de Boer, Elke ; Marcelis, Carlo ; Neveling, Kornelia...
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100200 , 2023

Link: https://doi.org/10.1016/..

7

#2568 LONG-READ SEQUENCING IDENTIFIES NOVEL PATHOGENIC INTR..:

Viering, Daan ; Hureaux, Marguerite ; Neveling, Kornelia...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1093/..

8

Optical genome mapping and revisiting short-read genome seq..:

de Bruijn, Suzanne E. ; Rodenburg, Kim ; Corominas, Jordi...
Genetics in Medicine. 25 (2023) 3 - p. 100345 , 2023

Link: https://doi.org/10.1016/..

9

Biallelic variants in CRIPT cause a Rothmund-Thomson-like s..:

Averdunk, Luisa ; Huetzen, Maxim A. ; Moreno-Andrés, Daniel...
Genetics in Medicine. 25 (2023) 7 - p. 100836 , 2023

Link: https://doi.org/10.1016/..

10

Precision oncology using organoids of a secretory carcinoma..:

Lassche, Gerben ; van Engen - van Grunsven, Adriana C.H. ; van Hooij, Onno...
Oral Oncology. 137 (2023) - p. 106297 , 2023

Link: https://doi.org/10.1016/..

11

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cy..:

Reurink, Janine ; de Vrieze, Erik ; Li, Catherina H. Z....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

12

Optical genome mapping for structural variation analysis in..:

Smith, Adam C. ; Neveling, Kornelia ; Kanagal‐Shamanna, Rashmi
American Journal of Hematology. 97 (2022) 7 - p. 975-982 , 2022

Link: https://doi.org/10.1002/..

13

16. International working group recommendations for the imp..:

Smith, Adam ; Kanagal-Shamanna, Rashmi ; Dewaele, Barbara...
Cancer Genetics. 268-269 (2022) - p. 6 , 2022

Link: https://doi.org/10.1016/..

14

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gen..:

Haer-Wigman, Lonneke ; den Ouden, Amber ; van Genderen, Maria M....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

15

Noncoding Aberrations in Mismatch Repair Genes Underlie a S..:

Te Paske, Iris B.A.W. ; Mensenkamp, Arjen R. ; Neveling, Kornelia...
Gastroenterology. 163 (2022) 6 - p. 1691-1694.e7 , 2022

Link: https://doi.org/10.1053/..

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